Results 1 to 10 of about 3,387 (108)

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia—A Case Report of the Coexistence of Two Rare Diseases in One Patient [PDF]

Reports
Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS)
Mariola Krzyścin, Agnieszka Brodowska, Gabriela Furtak, Dominika Pietrzyk, Katarzyna Zając, Bartosz Oder, Adam Przepiera, Elżbieta Sowińska-Przepiera   +7 more
doaj   +5 more sources

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China [PDF]

Frontiers in Surgery
BackgroundWe examined the clinical features, diagnosis, treatment, and future gender choice of patients with partial androgen insensitivity syndrome (PAIS).Case presentationThe clinical features, specialty examinations, three-stage surgical examination ...
Haixia Qin, Huaqian Liu, Qiang Liu, Baiou Li   +3 more
doaj   +5 more sources

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series [PDF]

Clinical Case Reports
Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings.
Tayyeb Ali, Muhammad Hassaan Javaid, Sibgha Fawad Memon, Zauha Fawad Memon, Munazza Iqbal, Sadia Afridi, Abdul Rahim Soroush, Adnan Iqbal Khan, Naseer Ahmad, Nayab Ayub Afridi, Zuhaib Ali   +10 more
doaj   +3 more sources

Partial androgen insensitivity syndrome: Incidentally diagnosed in an adolescent

Indian Pediatrics Case Reports, 2023
Background: Androgen insensitivity syndrome is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is one of the most common causes of Disorders of sex development (DSD).
A J Aparna, I Riaz, V H Sankar, Devakumar Vasanthiamma Krishnannair   +3 more
doaj   +3 more sources

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome [PDF]

Journal of Clinical Endocrinology and Metabolism
Introduction Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males. Objectives To assess the management of gynecomastia in male PAIS.
Olaf Hiort, Anders Juul, Paul-Martin Holterhus   +2 more
exaly   +3 more sources

Preserved Fertility in Partial Androgen Insensitivity Syndrome: A Case Report Emphasizing Clinical Diagnosis Over Genomics in a Low-Resource Setting

Journal of Nepal Medical Association
Partial Androgen Insensitivity Syndrome (PAIS) is a disorder of sexual development in 46, XY individuals caused by mutations in the androgen receptor gene, leading to partial androgen resistance.
Ramesh Raj Acharya, Bijay Bastola, Ashutosh Sayenju, Pratisma Wagle, Abhiraj Yadav   +4 more
doaj   +3 more sources

Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS) [PDF]

Stem Cell Research, 2020
Androgen receptor (AR) is essential for maintaining normal spermatogenesis and male fertility, and its mutation can cause complete or partial androgen insensitivity syndrome (CAIS or PAIS) in patients. We established an induced pluripotent stem cell line
Junqing Chen, Xiaoyu Yang, Bifei Fu, Pinmou Zhu, Yunfei Zhu, Xuejiang Guo, Jiahao Sha, Yan Yuan   +7 more
doaj   +3 more sources

A case of mild partial androgen insensitivity syndrome in a juvenile boy

Journal of International Medical Research
Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development.
Fen Wang, Shiying Shao, Wentao He, Shuhong Hu   +3 more
doaj   +3 more sources

MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review [PDF]

Gynecological Endocrinology
Objective To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.Methods We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen ...
Duoduo Zhang, Qinjie Tian
doaj   +3 more sources

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2018
Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty.
Priya Vaidyanathan, Paul Kaplowitz
doaj   +3 more sources